R103* (p.Arg103Ter) variant of PIEZO1 (Piezo-type mechanosensitive ion channel component 1)
R103* (p.Arg103Ter) in PIEZO1 (Piezo-type mechanosensitive ion channel component 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R103* (p.Arg103Ter) variant details
- p.Arg103Ter
- rs759026521
- ClinGen CA397124081
- ClinVar RCV001849890
- ExAC rs759026521
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available